Abstract
Brachmann-de Lange syndrome (BDLS) is a dysmorphic syndrome, including growth deficiency, characteristic facial features, mental retardation, hypertrichosis, and varied malformations of the musculoskeletal system and other organs. Although some cases of BDLS have been reported in Korea, no case has been shown to have the familial incidence. Herein, we report a familial occurrence of BDLS. A three-year-old girl visited our clinic with complaint of thick hairs on her midback since birth. She presented with the characteristic facial features of BDLS and brachydactyly which were also shown in her mother. It was suggested that the mode of transmission to the patient was autosomal dominant inheritance.
Original language | English |
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Pages (from-to) | 1413-1415 |
Number of pages | 3 |
Journal | Korean Journal of Dermatology |
Volume | 43 |
Issue number | 10 |
State | Published - Oct 2005 |
Keywords
- Brachmann-de Lange syndrome
- Dorsal hypertrichosis